A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.
|Original language||English (US)|
|Number of pages||5|
|Journal||Journal of Inherited Metabolic Disease|
|State||Published - Nov 1991|
ASJC Scopus subject areas